IFRD1 gene related symptoms and diseases

All the information presented here about the IFRD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IFRD1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Peripheral axonal neuropathy Very Common - Between 80% and 100% cases
Titubation Very Common - Between 80% and 100% cases
Head tremor Very Common - Between 80% and 100% cases
Muscle fibrillation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IFRD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lower limb hyperreflexia
  • Sensorimotor neuropathy
  • Sensory impairment
  • Dysmetria
  • Nystagmus
  • Gait ataxia
  • Pes cavus
  • Areflexia

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IFRD1 gene

Here you will find a list of rare diseases related to the IFRD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 18


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Description

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 18

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


More info about SPINOCEREBELLAR ATAXIA TYPE 18

SOURCES: ORPHANET


Potential gene panels for IFRD1 gene

IFRD1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the IFRD1 gene.

More info about this panel

Spinocerebellar ataxia 18 (SCA18, frequent mutations on IFRD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IFRD1 gene.

More info about this panel

IFRD1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the IFRD1 gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Spinocerebellar ataxia type 18 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IFRD1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel

IFRD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFRD1 gene.

More info about this panel

Spinocerebellar ataxia type 18 Panel

Spain.

By Bioarray

This panel specifically test the IFRD1 gene.

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel

Spinocerebellar ataxia panel Panel

Canada.

By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56

More info about this panel

Spinocerebellar Ataxia Type 18 , Sequencing IFRD1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IFRD1 gene.

More info about this panel


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